• Gene id: 2668

Gene Summary

• Gene Symbol: GDNF   Gene   UCSC   Ensembl
• Aliases: ATF, ATF1, ATF2, HFB1-GDNF, HSCR3
• Gene name: glial cell derived neurotrophic factor
• Alternate names: glial cell line-derived neurotrophic factor, astrocyte-derived trophic factor,
• Gene location: 5p13.2 (37840043: 37812676)     Exons: 6     NC_000005.10
• Gene summary(Entrez): This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
• OMIM: 600837

Protein Summary

• Protein general information: P39905  
  • Name: Glial cell line derived neurotrophic factor (hGDNF) (Astrocyte derived trophic factor) (ATF)
  • Length: 211  
  • Mass: 23,720
• Sequence:

  MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRL
  KRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCD
  AAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI

• Structural information:
  • Interpro: IPR029034  IPR016649  IPR001839  
  • Prosite: PS51362
  • PDB: 2V5E 3FUB 4UX8
  • PDBsum: 2V5E 3FUB 4UX8
  • DIP: 59051
  • STRING: ENSP00000409007
• Other Databases: GeneCards:  GDNF  Malacards:  GDNF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0001755	neural crest cell migration	IDA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0001941	postsynaptic membrane organization	IEA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005622	intracellular	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008344	adult locomotory behavior	TAS	biological process
GO:0010468	regulation of gene expression	IGI	biological process
GO:0021784	postganglionic parasympathetic fiber development	ISS	biological process
GO:0030432	peristalsis	ISS	biological process
GO:0031175	neuron projection development	IDA	biological process
GO:0032770	positive regulation of monooxygenase activity	IDA	biological process
GO:0033603	positive regulation of dopamine secretion	TAS	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048255	mRNA stabilization	IDA	biological process
GO:0048484	enteric nervous system development	ISS	biological process
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	IDA	biological process
GO:0060676	ureteric bud formation	IEA	biological process
GO:0060688	regulation of morphogenesis of a branching structure	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	IDA	biological process
GO:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:2000736	regulation of stem cell differentiation	TAS	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0001755	neural crest cell migration	IDA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0001941	postsynaptic membrane organization	IEA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005622	intracellular	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008344	adult locomotory behavior	TAS	biological process
GO:0010468	regulation of gene expression	IGI	biological process
GO:0021784	postganglionic parasympathetic fiber development	IEA	biological process
GO:0021784	postganglionic parasympathetic fiber development	ISS	biological process
GO:0030432	peristalsis	IEA	biological process
GO:0030432	peristalsis	ISS	biological process
GO:0031175	neuron projection development	IDA	biological process
GO:0032770	positive regulation of monooxygenase activity	IDA	biological process
GO:0033603	positive regulation of dopamine secretion	TAS	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048255	mRNA stabilization	IDA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0048484	enteric nervous system development	ISS	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	IDA	biological process
GO:0060676	ureteric bud formation	IEA	biological process
GO:0060688	regulation of morphogenesis of a branching structure	IEA	biological process
GO:0060688	regulation of morphogenesis of a branching structure	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	IDA	biological process
GO:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:2000736	regulation of stem cell differentiation	TAS	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0001755	neural crest cell migration	IDA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008344	adult locomotory behavior	TAS	biological process
GO:0010468	regulation of gene expression	IGI	biological process
GO:0021784	postganglionic parasympathetic fiber development	ISS	biological process
GO:0030432	peristalsis	ISS	biological process
GO:0031175	neuron projection development	IDA	biological process
GO:0032770	positive regulation of monooxygenase activity	IDA	biological process
GO:0033603	positive regulation of dopamine secretion	TAS	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0045597	positive regulation of cell differentiation	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048255	mRNA stabilization	IDA	biological process
GO:0048484	enteric nervous system development	ISS	biological process
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	IDA	biological process
GO:0060688	regulation of morphogenesis of a branching structure	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	IDA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:2000736	regulation of stem cell differentiation	TAS	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	biological process

Diseases

Associated diseases	References
Pheochromocytoma	OMIM: 600837
Cancer	GAD: 19561646
Cancer (melanoma)	GAD: 19561646
Congenital central hypoventilation syndrome	KEGG: H00916
Hirschsprung disease	KEGG: H00910
Celiac disease	GAD: 19240061
Tourette syndrome	GAD: 18454440
Attention deficit hyperactivity disorder (ADHD)	GAD: 17192954
Major depressive disorder	GAD: 20125088
Psychological disorders	GAD: 19086053
Schizophrenia	GAD: 15003293
Several psychiatric disorders	GAD: 19086053
Oocyte maturation	INFBASE: 21227937
Sertoli cell only syndrome (SCOS)	MIK: 15845595
Azoospermia	MIK: 23503944
Cryptorchidism	MIK: 28606200
Sertoli cell-only syndrome (SCO)	MIK: 15845595
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15845595	Sertoli cell-only syndrome (SCO)			52 men with non-obstructive azoospermia who underwent microdissection TESE and were diagnosed with SCO by histological analysis	Male infertility	GDNF
23503944	Azoospermia			200 (100 NOA patients (as cases) and 100 OApatients with normal spermatogenesis (as controls))	Male infertility	Microarray
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray